Literature DB >> 6192719

New syndrome of congenital ichthyosis with neurologic abnormalities.

J Zunich, C I Kaye.   

Abstract

Entities:  

Mesh：

Year:  1983        PMID： 6192719     DOI： 10.1002/ajmg.1320150217

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  7 in total

Review 1.  [Skin and teeth].

Authors:  J Heinlin; N Heinlin; J Steinbauer; M Landthaler; S Karrer
Journal:  Hautarzt       Date:  2009-07       Impact factor: 0.751

2.  Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

Authors:  A Verloes
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

Review 3.  Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Authors:  V Shashi; J Zunich; T E Kelly; J S Fryburg
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

4.  A step closer in defining glycosylphosphatidylinositol anchored proteins role in health and glycosylation disorders.

Authors:  Emanuela Manea
Journal:  Mol Genet Metab Rep       Date:  2018-07-31

5.  Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders.

Authors:  Ruqaiah Altassan; Stephanie Fox; Chantal Poulin; Daniela Buhas
Journal:  Mol Genet Metab Rep       Date:  2018-02-06

6.  Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Authors:  José Rm Ceroni; Guilherme L Yamamoto; Rachel S Honjo; Chong A Kim; Maria R Passos-Bueno; Débora R Bertola
Journal:  Genet Mol Biol       Date:  2018-02-19       Impact factor: 1.771

Review 7.  The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Authors:  Tenghui Wu; Fei Yin; Shiqi Guang; Fang He; Li Yang; Jing Peng
Journal:  Orphanet J Rare Dis       Date:  2020-05-28       Impact factor: 4.123
  7 in total

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